#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
ZNF157	7712	broad.mit.edu	37	X	47272125	47272125	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:47272125T>C	ENST00000377073.3	+	4	739	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	218					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAGGCCCTTTGAATGTAAT	0.438																																						ENST00000377073.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(652-654)tTt>tCt	zinc finger protein 157						64.0	58.0	60.0					X																	47272125		2203	4300	6503	SO:0001583	missense	7712			negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272125T>C	U28687	U28687	CCDS14278.1	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117	ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	12942	12942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300024	300024	"""zinc finger protein 157 (HZF22)"""		"""zinc finger protein 157 (HZF22)"""			8586441	8586441	Standard	Standard	NM_003446	NM_003446		Approved	HZF22	uc004dhr.1	uc004dhr.1	P51786	P51786	OTTHUMG00000021443	OTTHUMG00000021443	ENST00000377073.3:c.653T>C	X.37:g.47272125T>C	ENSP00000366273:p.Phe218Ser			p.F218S	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	739	+			218		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.653T>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298904	0.40694	.	.	ENSG00000147117	ENST00000377073	T	0.24908	1.83	2.87	-0.686	0.11324	2.87	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37320	0.0999	M	0.89353	3.025	0.18873	N	0.999981	P	0.49307	0.922	P	0.46825	0.528	T	0.29792	-1.0000	9	0.87932	D	0	.	6.3279	0.21255	0.4938:0.0:0.0:0.5062	.	218	P51786	ZN157_HUMAN	S	218	ENSP00000366273:F218S	ENSP00000366273:F218S	F	+	2	0	0	ZNF157	47157069	47157069	0.001000	0.12720	0.407000	0.26434	0.946000	0.59487	-0.161000	0.10026	-0.169000	0.10834	0.430000	0.28490	TTT		0.438	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1		104.531066	-26	-26	20	20	NM_003446		29	109.810079	109.810079	3	0.906250	0	0	0	1	0	29	3	0.90625
IGKV1D-17	28900	broad.mit.edu	37	2	90122037	90122037	+	RNA	SNP	C	C	T	rs187567710	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr2:90122037C>T	ENST00000483379.1	+	0	436									immunoglobulin kappa variable 1D-17																		CAAGGTTCAGCGGCAGTGGAT	0.473													C|||	11	0.00219649	0.0	0.0	5008	,	,		18434	0.0109		0.0	False		,,,				2504	0.0					ENST00000483379.1											0																	113.0	107.0	109.0					2																	90122037		1854	4084	5938			0						g.chr2:90122037C>T	X63392	X63392			2p11.2	2012-02-08			2012-02-08			ENSG00000242766	ENSG00000242766	ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	"""Immunoglobulins / IGK locus"""	5749	5749	other	immunoglobulin gene	other	immunoglobulin gene												Standard	Standard	NG_000833	NG_000833		Approved						OTTHUMG00000151610	OTTHUMG00000151610		2.37:g.90122037C>T											0	436	+						RNA	SNP	ENST00000483379.1	37																																																																																											0.473	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1		-14.555809	-124	-124	100	100	NG_000833		6	13.1714	13.171400	121	0.047244	0	0	0	1	0	6	121	0.047244
EVC	2121	broad.mit.edu	37	4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:5798849C>T	ENST00000264956.6	+	14	2171	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	EVC_ENST00000382674.2_Missense_Mutation_p.R663W|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	663					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GACGCAGATGCGGCTATCGGG	0.677																																						ENST00000382674.2											0			NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1987-1989)Cgg>Tgg	Ellis van Creveld syndrome						43.0	42.0	42.0					4																	5798849		2203	4300	6503	SO:0001583	missense	2121			muscle organ development	integral to membrane		g.chr4:5798849C>T	AF216184	AF216184	CCDS3383.1	CCDS3383.1	4p16	2008-07-03			2008-07-03			ENSG00000072840	ENSG00000072840	ENSG00000072840	ENSG00000072840				3497	3497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604831	604831						10700184	10700184	Standard	Standard	NM_153717	NM_153717		Approved	DWF-1	uc003gil.1	uc003gil.1	P57679	P57679	OTTHUMG00000090427	OTTHUMG00000090427	ENST00000264956.6:c.1987C>T	4.37:g.5798849C>T	ENSP00000264956:p.Arg663Trp		EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.R663W	p.R663W			P57679	EVC_HUMAN			14	2171	+		Myeloproliferative disorder(84;0.117)	663			Missense_Mutation	SNP	ENST00000264956.6	37	c.1987C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598476	0.66332	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.62639	0.01;0.01	5.04	-3.25	0.05079	5.04	-3.25	0.05079	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77768	-0.2464	10	0.87932	D	0	.	17.6432	0.88142	0.2058:0.7942:0.0:0.0	.	663	P57679	EVC_HUMAN	W	663	ENSP00000264956:R663W;ENSP00000372120:R663W	ENSP00000264956:R663W	R	+	1	2	2	EVC	5849750	5849750	0.512000	0.26186	0.982000	0.44146	0.656000	0.38851	0.084000	0.14891	-0.392000	0.07751	-0.293000	0.09583	CGG		0.677	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		-0.644183	-24	-24	34	34			3	6.977666	6.977666	38	0.073171	0	0	0	1	0	3	38	0.073171
SLC26A9	115019	broad.mit.edu	37	1	205897160	205897160	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:205897160G>A	ENST00000367135.3	-	9	1084	c.971C>T	c.(970-972)tCg>tTg	p.S324L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACCACAGGCGACACCGGGGT	0.627																																						ENST00000367135.3											0			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(970-972)tCg>tTg	solute carrier family 26 (anion exchanger), member 9						48.0	44.0	45.0					1																	205897160		2203	4300	6503	SO:0001583	missense	115019				integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897160G>A	AF331525	AF331525	CCDS30989.1, CCDS30990.1	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502	ENSG00000174502	ENSG00000174502		"""Solute carriers"""	"""Solute carriers"""	14469	14469	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	"""anion transporter/exchanger-9"""	608481	608481	"""solute carrier family 26, member 9"""		"""solute carrier family 26, member 9"""			11834742	11834742	Standard	Standard	NM_134325	NM_134325		Approved		uc001hdp.3	uc001hdp.3	Q7LBE3	Q7LBE3	OTTHUMG00000036001	OTTHUMG00000036001	ENST00000367135.3:c.971C>T	1.37:g.205897160G>A	ENSP00000356103:p.Ser324Leu		SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L	p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1084	-	Breast(84;0.201)		324		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.971C>T	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775066	0.16051	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91011	-2.77;-2.77;-2.77	5.08	-5.06	0.02946	5.08	-5.06	0.02946	Sulphate transporter (1);	0.940463	0.08820	N	0.888975	T	0.64238	0.2580	N	0.00395	-1.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.62978	-0.6739	10	0.05959	T	0.93	.	10.9397	0.47266	0.7013:0.1102:0.1885:0.0	.	324;324	Q7LBE3;B1AVM8	S26A9_HUMAN;.	L	324	ENSP00000341682:S324L;ENSP00000356103:S324L;ENSP00000356102:S324L	ENSP00000341682:S324L	S	-	2	0	0	SLC26A9	204163783	204163783	0.000000	0.05858	0.003000	0.11579	0.578000	0.36192	0.109000	0.15417	-1.365000	0.02158	-0.136000	0.14681	TCG		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1		36.297902	-6	-6	24	24	NM_052934		12	36.331299	36.331299	14	0.461538	0	0	0	1	0	12	14	0.461538
TBC1D10A	83874	broad.mit.edu	37	22	30690061	30690061	+	Silent	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr22:30690061C>T	ENST00000215790.7	-	7	908	c.744G>A	c.(742-744)ctG>ctA	p.L248L	RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403477.3_Silent_p.L255L|TBC1D10A_ENST00000403362.1_Silent_p.L160L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	248	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTTCTGCAACAGCGAGAAAA	0.602																																						ENST00000215790.7											0			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(742-744)ctG>ctA	TBC1 domain family, member 10A						129.0	118.0	122.0					22																	30690061		2203	4300	6503	SO:0001819	synonymous_variant	83874				intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30690061C>T	AF331038	AF331038	CCDS13874.1, CCDS56227.1	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992	ENSG00000099992	ENSG00000099992				23609	23609	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	"""EBP50-PDZ interactor of 64 kD"""	610020	610020	"""TBC1 domain family, member 10"""	TBC1D10	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	11285285, 20404108	Standard	Standard	NM_001204240	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	uc010gvu.3	Q9BXI6	Q9BXI6	OTTHUMG00000150924	OTTHUMG00000150924	ENST00000215790.7:c.744G>A	22.37:g.30690061C>T			RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403362.1_Silent_p.L160L|TBC1D10A_ENST00000403477.3_Silent_p.L255L	p.L248L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			7	908	-			248	Rab-GAP TBC.	B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.744G>A	CCDS13874.1																																																																																									0.602	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1		76.643779	-20	-20	71	71	NM_031937		26	76.739158	76.739158	31	0.456140	0	0	0	1	0	26	31	0.45614
SAP18	10284	hgsc.bcm.edu	37	13	21721323	21721323	+	Splice_Site	SNP	A	A	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr13:21721323A>C	ENST00000607003.1	+	4	337		c.e4-1		SAP18_ENST00000382533.4_Splice_Site			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa						mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		TCTTTCTTACAGAGTTAAGGA	0.403																																																	0																	81.0	82.0	82.0					13																	21721323		2203	4300	6503	SO:0001630	splice_region_variant	10284							U96915	U96915	CCDS9295.2	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459	ENSG00000150459	ENSG00000150459				10530	10530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602949	602949	"""sin3A-associated protein, 18kDa"""		"""sin3A-associated protein, 18kDa"""			9150135	9150135	Standard	Standard	NM_005870	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	uc001uns.3	O00422	O00422	OTTHUMG00000016535	OTTHUMG00000016535	ENST00000607003.1:c.306-1A>C	13.37:g.21721323A>C																		B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Splice_Site	SNP	ENST00000607003.1	37			.	.	.	.	.	.	.	.	.	.	A	15.37	2.813283	0.50527	.	.	ENSG00000150459	ENST00000382533;ENST00000450573	.	.	.	4.51	4.51	0.55191	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8228	0.57702	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SAP18	20619323	20619323	1.000000	0.71417	0.993000	0.49108	0.682000	0.39822	9.066000	0.93949	2.009000	0.58944	0.482000	0.46254	.		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1			0	0	78	78	NM_005870	Intron	8			96							8	96	
KIF13B	23303	broad.mit.edu	37	8	29024912	29024912	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:29024912C>T	ENST00000524189.1	-	11	1174	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	379					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCCCGGAGTTTCTC	0.552																																						ENST00000524189.1											0			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1135-1137)cGg>cAg	kinesin family member 13B						36.0	36.0	36.0					8																	29024912		1954	4156	6110	SO:0001583	missense	23303			microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29024912C>T	AB014539	AB014539	CCDS55217.1	CCDS55217.1	8p21	2008-07-30			2008-07-30				ENSG00000197892		ENSG00000197892		"""Kinesins"""	"""Kinesins"""	14405	14405	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607350	607350						9734811, 10859302, 16864656	9734811, 10859302, 16864656	Standard	Standard	NM_015254	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	uc003xhh.4	Q9NQT8	Q9NQT8			ENST00000524189.1:c.1136G>A	8.37:g.29024912C>T	ENSP00000427900:p.Arg379Gln		KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	11	1174	-		Ovarian(32;0.000536)	379		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1136G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769807	0.69992	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.78246	-1.16;-1.09	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	L	0.45581	1.43	0.80722	D	1	D;D;P	0.71674	0.997;0.998;0.946	D;P;P	0.70227	0.968;0.812;0.606	D	0.85911	0.1440	10	0.62326	D	0.03	.	17.4419	0.87567	0.0:1.0:0.0:0.0	.	365;379;379	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	379	ENSP00000427900:R379Q;ENSP00000429201:R379Q	ENSP00000429201:R379Q	R	-	2	0	0	KIF13B	29080831	29080831	0.992000	0.36948	0.990000	0.47175	0.982000	0.71751	3.163000	0.50763	2.347000	0.79759	0.561000	0.74099	CGG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		95.209216	-3	-3	26	26			28	95.585906	95.585906	19	0.595745	0	0	0	1	0	28	19	0.595745
GLA	2717	broad.mit.edu	37	X	100653465	100653465	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:100653465T>C	ENST00000218516.3	-	6	913	c.892A>G	c.(892-894)Aat>Gat	p.N298D	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	298			N -> H (in FD). {ECO:0000269|PubMed:11668641, ECO:0000269|PubMed:8875188}.|N -> K (in FD). {ECO:0000269|PubMed:8807334}.|N -> S (in FD). {ECO:0000269|PubMed:9100224}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGAGGTCATTAGACATGAAT	0.493																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3											0			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM960774	GLA	M		c.(892-894)Aat>Gat	galactosidase, alpha						140.0	136.0	138.0					X																	100653465		2203	4300	6503	SO:0001583	missense	2717			glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653465T>C	X16889	X16889	CCDS14484.1	CCDS14484.1	Xq21.3-q22	2014-09-17			2014-09-17			ENSG00000102393	ENSG00000102393	ENSG00000102393	ENSG00000102393	3.2.1.22			4296	4296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300644	300644								Standard	Standard	NM_000169	NM_000169		Approved	GALA	uc004ehl.1	uc004ehl.1	P06280	P06280	OTTHUMG00000022026	OTTHUMG00000022026	ENST00000218516.3:c.892A>G	X.37:g.100653465T>C	ENSP00000218516:p.Asn298Asp		RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.N298D	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			6	913	-			298		Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.892A>G	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593064	0.86953	.	.	ENSG00000102393	ENST00000218516	D	0.99683	-6.39	5.91	4.73	0.59995	5.91	4.73	0.59995	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.080242	0.85682	D	0.000000	D	0.99629	0.9864	.	.	.	0.46167	D	0.998904	D	0.89917	1.0	D	0.76071	0.987	D	0.98104	1.0416	9	0.56958	D	0.05	-14.5514	12.4053	0.55436	0.0:0.0:0.1384:0.8616	.	298	P06280	AGAL_HUMAN	D	298	ENSP00000218516:N298D	ENSP00000218516:N298D	N	-	1	0	0	GLA	100540121	100540121	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.040000	0.89188	0.826000	0.34661	0.486000	0.48141	AAT		0.493	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		260.315726	-120	-120	87	87			73	270.869964	270.869964	12	0.858824	0	0	0	1	0	73	12	0.858824
CHAT	1103	broad.mit.edu	37	10	50863168	50863168	+	Silent	SNP	C	C	T	rs145370753		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr10:50863168C>T	ENST00000337653.2	+	12	1815	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000395562.2_Silent_p.Y472Y|CHAT_ENST00000351556.3_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	554					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGCCCACCTACGAGAGCGCGT	0.527																																						ENST00000395562.2											0			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1414-1416)taC>taT	choline O-acetyltransferase	C	,,,,,,	0,4406		0,0,2203	56.0	57.0	57.0		1308,1416,1308,1662,1308,1308,1308	-3.8	1.0	10	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	436/631,472/667,436/631,554/749,436/631,436/631,436/631	50863168	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1103			neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863168C>T	AF305907	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	ENSG00000070748	ENSG00000070748	2.3.1.6			1912	1912	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			118490	118490	"""choline acetyltransferase"""		"""choline acetyltransferase"""			1840566	1840566	Standard	Standard	NM_020984	NM_020984		Approved		uc001jhz.2	uc001jhz.2	P28329	P28329	OTTHUMG00000018198	OTTHUMG00000018198	ENST00000337653.2:c.1662C>T	10.37:g.50863168C>T			CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y|CHAT_ENST00000337653.2_Silent_p.Y554Y|CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000351556.3_Silent_p.Y436Y	p.Y472Y	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1885	+		all_neural(218;0.107)	554		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1416C>T	CCDS7232.1																																																																																									0.527	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		81.682250	-35	-35	55	55	NM_020549		28	82.549839	82.549839	45	0.383562	0	0	0	1	0	28	45	0.383562
OR51B6	390058	broad.mit.edu	37	11	5372973	5372973	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:5372973T>C	ENST00000380219.1	+	1	236	c.236T>C	c.(235-237)gTg>gCg	p.V79A	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCACAGTGCTAGGTGTT	0.478																																						ENST00000380219.1											0			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(235-237)gTg>gCg	olfactory receptor, family 51, subfamily B, member 6						133.0	122.0	126.0					11																	5372973		2201	4297	6498	SO:0001583	missense	390058			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372973T>C			CCDS31379.1	CCDS31379.1	11p15.4	2012-08-09			2012-08-09			ENSG00000176239	ENSG00000176239	ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	19600	19600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004750	NM_001004750		Approved		uc010qzb.2	uc010qzb.2	Q9H340	Q9H340	OTTHUMG00000066669	OTTHUMG00000066669	ENST00000380219.1:c.236T>C	11.37:g.5372973T>C	ENSP00000369568:p.Val79Ala		HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.V79A	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	236	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	79			Missense_Mutation	SNP	ENST00000380219.1	37	c.236T>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066574	0.36470	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.03124	4.04	5.15	5.15	0.70609	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.08492	0.0211	M	0.61703	1.905	0.31894	N	0.616853	P	0.35307	0.494	B	0.41202	0.35	T	0.00942	-1.1506	10	0.87932	D	0	.	13.9298	0.63989	0.0:0.0:0.0:1.0	.	79	Q9H340	O51B6_HUMAN	A	78;79	ENSP00000369568:V79A	ENSP00000369568:V79A	V	+	2	0	0	OR51B6	5329549	5329549	0.001000	0.12720	0.915000	0.36163	0.380000	0.30137	1.169000	0.31871	2.157000	0.67596	0.455000	0.32223	GTG		0.478	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1		142.962572	-18	-18	75	75	NM_001004750		45	143.944684	143.944684	27	0.625000	0	0	0	1	0	45	27	0.625
FBN1	2200	broad.mit.edu	37	15	48730066	48730066	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730066G>A	ENST00000316623.5	-	51	6667	c.6212C>T	c.(6211-6213)tCa>tTa	p.S2071L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGGGTGATGAACACTTTCC	0.493																																						ENST00000316623.5											0			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)tCa>tTa	fibrillin 1						165.0	146.0	153.0					15																	48730066		2198	4296	6494	SO:0001583	missense	2200			heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730066G>A	X63556	X63556	CCDS32232.1	CCDS32232.1	15q21.1	2014-09-17	2006-04-25		2014-09-17	2006-04-25			ENSG00000166147		ENSG00000166147				3603	3603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Marfan syndrome"""	"""Marfan syndrome"""	134797	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	10036187, 12525539	Standard	Standard	NM_000138	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	uc001zwx.2	P35555	P35555			ENST00000316623.5:c.6212C>T	15.37:g.48730066G>A	ENSP00000325527:p.Ser2071Leu			p.S2071L	NM_000138.4	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6667	-		all_lung(180;0.00279)	2071	TB 8.	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6212C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214719	0.58452	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93659	-3.26	5.65	5.65	0.86999	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.92361	0.7576	M	0.64260	1.97	0.80722	D	1	P	0.34462	0.454	B	0.34931	0.192	D	0.90027	0.4132	10	0.29301	T	0.29	.	19.5069	0.95121	0.0:0.0:1.0:0.0	.	2071	P35555	FBN1_HUMAN	L	2071;639;961	ENSP00000325527:S2071L	ENSP00000325527:S2071L	S	-	2	0	0	FBN1	46517358	46517358	1.000000	0.71417	0.935000	0.37517	0.900000	0.52787	3.258000	0.51507	2.941000	0.99782	0.655000	0.94253	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		92.972331	-6	-6	132	132			32	94.8527	94.852700	60	0.347826	0	0	0	1	0	32	60	0.347826
RGS12	6002	broad.mit.edu	37	4	3419159	3419159	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:3419159G>A	ENST00000344733.5	+	9	3556	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.L884L|RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000382788.3_Silent_p.L884L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000508158.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	884					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGAAGAGCTGGGGGATGAGG	0.498																																						ENST00000336727.3											0			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2650-2652)ctG>ctA	regulator of G-protein signaling 12						46.0	49.0	48.0					4																	3419159		2203	4300	6503	SO:0001819	synonymous_variant	6002				condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419159G>A	AF035152	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	"""Regulators of G-protein signaling"""	9994	9994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602512	602512	"""regulator of G-protein signalling 12"""		"""regulator of G-protein signalling 12"""			9651375	9651375	Standard	Standard	NM_198229	NM_198229		Approved		uc003ggw.3	uc003ggw.3	O14924	O14924	OTTHUMG00000090277	OTTHUMG00000090277	ENST00000344733.5:c.2652G>A	4.37:g.3419159G>A			RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.L884L|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.L884L	p.L884L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3556	+			884		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.2652G>A	CCDS3366.1																																																																																									0.498	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		44.314335	-12	-12	35	35	NM_002926		15	44.86336	44.863360	25	0.375000	0	0	0	1	0	15	25	0.375
EFTUD1	79631	broad.mit.edu	37	15	82517553	82517553	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:82517553G>A	ENST00000268206.7	-	12	1413	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_ENST00000561331.1_5'Flank|EFTUD1_ENST00000359445.3_Silent_p.S364S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	415					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378																																						ENST00000268206.7											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1243-1245)tcC>tcT	elongation factor Tu GTP binding domain containing 1						64.0	60.0	61.0					15																	82517553		1837	4092	5929	SO:0001819	synonymous_variant	79631			mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82517553G>A	AK056656	AK056656	CCDS42070.1, CCDS42071.1	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			2012-07-04			ENSG00000140598	ENSG00000140598	ENSG00000140598	ENSG00000140598				25789	25789	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""	"""ribosome assembly 1 homolog (yeast)"""								14702039	14702039	Standard	Standard	NM_024580	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	uc002bgt.1	Q7Z2Z2	Q7Z2Z2	OTTHUMG00000172573	OTTHUMG00000172573	ENST00000268206.7:c.1245C>T	15.37:g.82517553G>A			EFTUD1_ENST00000359445.3_Silent_p.S364S	p.S415S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			12	1413	-			415		A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.1245C>T	CCDS42071.1																																																																																									0.378	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1		43.743821	-19	-19	40	40	NM_024580		14	43.975049	43.975049	20	0.411765	0	0	0	1	0	14	20	0.411765
RALYL	138046	broad.mit.edu	37	8	85799947	85799947	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:85799947C>T	ENST00000521268.1	+	8	1899	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000518566.1_Missense_Mutation_p.A254V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	265							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGGCCAGATGCCGATGGAGAA	0.488																																						ENST00000521268.1											0			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(793-795)gCc>gTc	RALY RNA binding protein-like						150.0	154.0	153.0					8																	85799947		2007	4178	6185	SO:0001583	missense	138046					identical protein binding|nucleotide binding|RNA binding	g.chr8:85799947C>T			CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			2013-07-16			ENSG00000184672	ENSG00000184672	ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	27036	27036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614648	614648						12688537	12688537	Standard	Standard	NM_001100391	NM_001100391		Approved	HNRPCL3	uc003yct.4	uc003yct.4	Q86SE5	Q86SE5	OTTHUMG00000164628	OTTHUMG00000164628	ENST00000521268.1:c.794C>T	8.37:g.85799947C>T	ENSP00000430367:p.Ala265Val		RALYL_ENST00000518566.1_Missense_Mutation_p.A254V|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V	p.A265V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1899	+			265		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.794C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098964	0.37048	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14144	2.94;2.94;2.94;2.96;2.94;2.53	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.295105	0.32068	N	0.006622	T	0.10035	0.0246	N	0.13043	0.29	0.80722	D	1	B;B;B;B	0.15930	0.003;0.015;0.015;0.008	B;B;B;B	0.16289	0.001;0.015;0.009;0.002	T	0.17501	-1.0367	10	0.35671	T	0.21	-8.5446	16.1174	0.81319	0.0:0.7977:0.2023:0.0	.	254;192;278;265	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	V	265;265;265;254;278;192	ENSP00000430394:A265V;ENSP00000428667:A265V;ENSP00000430367:A265V;ENSP00000430065:A254V;ENSP00000430128:A278V;ENSP00000428807:A192V	ENSP00000430128:A278V	A	+	2	0	0	RALYL	85962502	85962502	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	3.471000	0.53107	2.562000	0.86427	0.561000	0.74099	GCC		0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		-49.980140	-20	-20	78	78			4	6.37457	6.374570	212	0.018519	0	0	0	1	0	4	212	0.018519
ZNF79	7633	broad.mit.edu	37	9	130206861	130206861	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:130206861G>A	ENST00000342483.5	+	5	1288	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF79_ENST00000543471.1_Silent_p.Q270Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTTGTTCAGCATCAGAGAA	0.542																																						ENST00000342483.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(880-882)caG>caA	zinc finger protein 79						123.0	107.0	112.0					9																	130206861		2203	4300	6503	SO:0001819	synonymous_variant	7633			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206861G>A	X65232	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152	ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	13153	13153	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			194552	194552	"""zinc finger protein 79 (pT7)"""		"""zinc finger protein 79 (pT7)"""			8478004	8478004	Standard	Standard	NM_007135	NM_007135		Approved	pT7	uc004bqw.4	uc004bqw.4	Q15937	Q15937	OTTHUMG00000020703	OTTHUMG00000020703	ENST00000342483.5:c.882G>A	9.37:g.130206861G>A			ZNF79_ENST00000543471.1_Silent_p.Q270Q	p.Q294Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1288	+			294		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.882G>A	CCDS6871.1																																																																																									0.542	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1		-3.115855	-26	-26	82	82	NM_007135		3	6.46065	6.460650	45	0.062500	0	0	0	1	0	3	45	0.0625
ZBTB7B	51043	broad.mit.edu	37	1	154987749	154987749	+	Missense_Mutation	SNP	C	C	T	rs199978828		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:154987749C>T	ENST00000368426.3	+	3	750	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	205					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCAAGCCCCGGAAAGCTTT	0.647																																						ENST00000368426.3											0			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(613-615)Cgg>Tgg	zinc finger and BTB domain containing 7B						34.0	40.0	38.0					1																	154987749		2201	4297	6498	SO:0001583	missense	51043			cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987749C>T	AF007833	AF007833	CCDS1081.1, CCDS58030.1	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	18668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	"""zinc finger and BTB domain containing 15"""	607646	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	9370309, 7937772	Standard	Standard	NR_045515	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	uc010peq.3	O15156	O15156	OTTHUMG00000037414	OTTHUMG00000037414	ENST00000368426.3:c.613C>T	1.37:g.154987749C>T	ENSP00000357411:p.Arg205Trp		ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W	p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	750	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		205		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.613C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227362	0.79576	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.10099	2.95;2.95;2.91;2.95	4.09	4.09	0.47781	4.09	4.09	0.47781	.	0.477271	0.19272	N	0.118382	T	0.12178	0.0296	L	0.27053	0.805	0.47698	D	0.999497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.03344	-1.1046	10	0.66056	D	0.02	.	11.6405	0.51230	0.0:1.0:0.0:0.0	.	205;205;239	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	W	205;205;239;205	ENSP00000438647:R205W;ENSP00000357411:R205W;ENSP00000406286:R239W;ENSP00000292176:R205W	ENSP00000292176:R205W	R	+	1	2	2	ZBTB7B	153254373	153254373	0.998000	0.40836	0.997000	0.53966	0.946000	0.59487	1.699000	0.37804	2.105000	0.64084	0.462000	0.41574	CGG		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		38.262832	-28	-28	44	44	NM_015872		13	39.348995	39.348995	27	0.325000	0	0	0	1	0	13	27	0.325
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		111.080561	-43	-43	69	69	NM_002072		33	111.211037	111.211037	27	0.550000	0	0	0	1	0	33	27	0.55
PMPCA	23203	broad.mit.edu	37	9	139316331	139316331	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:139316331G>A	ENST00000371717.3	+	12	1320	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	437					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCTCATGATGAACCTGGAAT	0.622																																						ENST00000371717.3											0			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1309-1311)atG>atA	peptidase (mitochondrial processing) alpha						100.0	81.0	88.0					9																	139316331		2203	4300	6503	SO:0001583	missense	23203			proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139316331G>A	D21064	D21064	CCDS35180.1, CCDS65192.1	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688	ENSG00000165688	ENSG00000165688				18667	18667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613036	613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	8590280, 7788527	Standard	Standard	NM_015160	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	uc004chl.3	Q10713	Q10713	OTTHUMG00000020926	OTTHUMG00000020926	ENST00000371717.3:c.1311G>A	9.37:g.139316331G>A	ENSP00000360782:p.Met437Ile		PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	p.M437I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	12	1320	+		Myeloproliferative disorder(178;0.0821)	437		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1311G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989561	0.93106	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.32272	1.46;1.46;1.46	5.04	5.04	0.67666	5.04	5.04	0.67666	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.92555	3.32	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	P;D;D	0.91635	0.636;0.999;0.999	T	0.75921	-0.3147	10	0.72032	D	0.01	.	17.3968	0.87448	0.0:0.0:1.0:0.0	.	306;437;437	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	I	437;306;145	ENSP00000360782:M437I;ENSP00000416702:M306I;ENSP00000408393:M145I	ENSP00000360782:M437I	M	+	3	0	0	PMPCA	138436152	138436152	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.474000	0.97718	2.332000	0.79248	0.655000	0.94253	ATG		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1		82.096152	-25	-25	36	36	NM_015160		25	82.652824	82.652824	15	0.625000	0	0	0	1	0	25	15	0.625
FBN1	2200	broad.mit.edu	37	15	48730067	48730067	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730067A>G	ENST00000316623.5	-	51	6666	c.6211T>C	c.(6211-6213)Tca>Cca	p.S2071P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGTGATGAACACTTTCCT	0.493																																						ENST00000316623.5											0			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)Tca>Cca	fibrillin 1						166.0	147.0	154.0					15																	48730067		2198	4296	6494	SO:0001583	missense	2200			heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730067A>G	X63556	X63556	CCDS32232.1	CCDS32232.1	15q21.1	2014-09-17	2006-04-25		2014-09-17	2006-04-25			ENSG00000166147		ENSG00000166147				3603	3603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Marfan syndrome"""	"""Marfan syndrome"""	134797	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	10036187, 12525539	Standard	Standard	NM_000138	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	uc001zwx.2	P35555	P35555			ENST00000316623.5:c.6211T>C	15.37:g.48730067A>G	ENSP00000325527:p.Ser2071Pro			p.S2071P	NM_000138.4	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6666	-		all_lung(180;0.00279)	2071	TB 8.	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6211T>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760190	0.69763	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93712	-3.27	5.52	4.39	0.52855	5.52	4.39	0.52855	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.93413	0.7899	M	0.80982	2.52	0.80722	D	1	P	0.47191	0.891	P	0.48368	0.575	D	0.91847	0.5488	10	0.51188	T	0.08	.	6.5568	0.22464	0.7897:0.0:0.0732:0.1371	.	2071	P35555	FBN1_HUMAN	P	2071;639;961	ENSP00000325527:S2071P	ENSP00000325527:S2071P	S	-	1	0	0	FBN1	46517359	46517359	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	3.053000	0.49901	1.101000	0.41535	0.460000	0.39030	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		101.973891	-6	-6	129	129			32	103.969771	103.969771	61	0.344086	0	0	0	1	0	32	61	0.344086
IGKV1-17	28937	broad.mit.edu	37	2	89416929	89416929	+	RNA	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr2:89416929G>A	ENST00000490686.1	-	0	281									immunoglobulin kappa variable 1-17																		ATCCACTGCCGCTGAACCTTG	0.483																																						ENST00000490686.1											0																	45.0	63.0	57.0					2																	89416929		1787	4047	5834			0						g.chr2:89416929G>A	X72808	X72808			2p11.2	2012-02-08			2012-02-08			ENSG00000240382	ENSG00000240382	ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	"""Immunoglobulins / IGK locus"""	5733	5733	other	immunoglobulin gene	other	immunoglobulin gene												Standard	Standard	NG_000834	NG_000834		Approved	IGKV117, A30					OTTHUMG00000151650	OTTHUMG00000151650		2.37:g.89416929G>A											0	281	-						RNA	SNP	ENST00000490686.1	37																																																																																											0.483	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1		-18.048383	-78	-78	97	97	NG_000834		4	6.45772	6.457720	102	0.037736	0	0	0	1	0	4	102	0.037736
MTNR1B	4544	broad.mit.edu	37	11	92703062	92703062	+	Silent	SNP	C	C	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:92703062C>A	ENST00000257068.2	+	1	177	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	57					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACGTCGTGGGCAACCTCCTGG	0.682																																						ENST00000257068.2											0			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(169-171)ggC>ggA	melatonin receptor 1B						35.0	28.0	31.0					11																	92703062		2200	4296	6496	SO:0001819	synonymous_variant	4544			G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92703062C>A	AB033598	AB033598	CCDS8290.1	CCDS8290.1	11q21-q22	2012-08-08			2012-08-08			ENSG00000134640	ENSG00000134640	ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	"""GPCR / Class A : Melatonin receptors"""	7464	7464	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600804	600804								Standard	Standard	NM_005959	NM_005959		Approved		uc001pdk.1	uc001pdk.1	P49286	P49286	OTTHUMG00000167364	OTTHUMG00000167364	ENST00000257068.2:c.171C>A	11.37:g.92703062C>A				p.G57G	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	177	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	57			Silent	SNP	ENST00000257068.2	37	c.171C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	6.963	0.547606	0.13312	.	.	ENSG00000134640	ENST00000528076	.	.	.	4.57	1.55	0.23275	4.57	1.55	0.23275	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39702	-0.9601	4	.	.	.	-21.4303	6.1095	0.20092	0.0:0.6661:0.1587:0.1752	.	.	.	.	E	38	.	.	A	+	2	0	0	MTNR1B	92342710	92342710	0.949000	0.32298	0.955000	0.39395	0.159000	0.22180	-0.034000	0.12225	0.029000	0.15352	-0.157000	0.13467	GCA		0.682	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		11.798134	-2	-2	22	22			4	11.885539	11.885539	6	0.400000	1	0	0.0215528	1	0.0215528	4	6	0.4
HDAC5	10014	broad.mit.edu	37	17	42157822	42157822	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr17:42157822C>G	ENST00000393622.2	-	22	3103	c.2772G>C	c.(2770-2772)tgG>tgC	p.W924C	HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000225983.6_Missense_Mutation_p.W925C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	924	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CACCTCCTGTCCATGCCACGT	0.592																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2773-2775)tgG>tgC	histone deacetylase 5						113.0	104.0	107.0					17																	42157822		2203	4300	6503	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157822C>G	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.2772G>C	17.37:g.42157822C>G	ENSP00000377244:p.Trp924Cys		HDAC5_ENST00000393622.2_Missense_Mutation_p.W924C|HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C	p.W925C			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	22	3098	-		Breast(137;0.00637)|Prostate(33;0.0313)	924	Histone deacetylase.	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2775G>C	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051972	0.75960	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.70282	-0.47;-0.47;-0.47	4.82	4.82	0.62117	4.82	4.82	0.62117	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.998	D	0.91694	0.5368	10	0.87932	D	0	-10.2938	16.824	0.85926	0.0:1.0:0.0:0.0	.	839;925;924	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	C	925;924;839	ENSP00000225983:W925C;ENSP00000377244:W924C;ENSP00000337290:W839C	ENSP00000225983:W925C	W	-	3	0	0	HDAC5	39513348	39513348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.978000	0.40598	2.522000	0.85027	0.655000	0.94253	TGG		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		72.249308	-51	-51	49	49	NM_001015053		22	72.268094	72.268094	24	0.478261	0	0	0	1	0	22	24	0.478261
SBK2	646643	broad.mit.edu	37	19	56041168	56041168	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr19:56041168G>A	ENST00000413299.1	-	4	1016	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCAGGGGCGCCCCAGGTGC	0.736																																						ENST00000413299.1											0			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(979-981)Cgc>Tgc	SH3 domain binding kinase family, member 2						14.0	20.0	18.0					19																	56041168		2034	4168	6202	SO:0001583	missense	646643					ATP binding|protein serine/threonine kinase activity	g.chr19:56041168G>A			CCDS42631.1	CCDS42631.1	19q13.42	2013-09-27	2013-09-27		2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550	ENSG00000187550	ENSG00000187550				34416	34416	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""SH3-binding domain kinase family, member 2"""		"""SH3-binding domain kinase family, member 2"""					Standard	Standard	NM_001101401	NM_001101401		Approved	SGK069	uc010ygc.2	uc010ygc.2	P0C263	P0C263	OTTHUMG00000155830	OTTHUMG00000155830	ENST00000413299.1:c.979C>T	19.37:g.56041168G>A	ENSP00000389015:p.Arg327Cys		SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	1016	-			327	Protein kinase.		Missense_Mutation	SNP	ENST00000413299.1	37	c.979C>T	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742396	0.15642	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.70869	-0.52;-0.52	3.85	3.85	0.44370	3.85	3.85	0.44370	Protein kinase, catalytic domain (1);	1.839090	0.02871	U	0.131554	T	0.60117	0.2244	N	0.24115	0.695	0.09310	N	0.999999	B	0.17667	0.023	B	0.14023	0.01	T	0.47983	-0.9074	10	0.51188	T	0.08	-6.4477	7.4852	0.27427	0.1178:0.0:0.8822:0.0	.	327	P0C263	SBK2_HUMAN	C	327	ENSP00000389015:R327C;ENSP00000345044:R327C	ENSP00000345044:R327C	R	-	1	0	0	SBK2	60732980	60732980	0.000000	0.05858	0.439000	0.26833	0.155000	0.21991	0.340000	0.19892	2.165000	0.68154	0.467000	0.42956	CGC		0.736	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1		7.986491	-15	-15	16	16	NM_001101401		4	10.079295	10.079295	18	0.181818	0	0	0	1	0	4	18	0.181818
DSTN	11034	broad.mit.edu	37	20	17581467	17581471	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:17581467_17581471delAAGAA	ENST00000246069.7	+	2	434_438	c.88_92delAAGAA	c.(88-93)aagaaafs	p.KK30fs	DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	30	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGAAATCAAGAAAAGAAAGAAG	0.385																																						ENST00000246069.7											0			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(88-93)aagaaafs	destrin (actin depolymerizing factor)																																			SO:0001589	frameshift_variant	11034			actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581467_17581471delAAGAA	S65738	S65738	CCDS13127.1, CCDS46580.1	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			2010-08-20			ENSG00000125868	ENSG00000125868	ENSG00000125868	ENSG00000125868				15750	15750	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609114	609114						8399167, 2156828	8399167, 2156828	Standard	Standard	NM_006870	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	uc002wpr.3	P60981	P60981	OTTHUMG00000031947	OTTHUMG00000031947	ENST00000246069.7:c.88_92delAAGAA	20.37:g.17581472_17581476delAAGAA	ENSP00000246069:p.Lys30fs		DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	p.KK30fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	434_438	+				ADF-H.	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Del	DEL	ENST00000246069.7	37	c.88_92delAAGAA	CCDS13127.1																																																																																									0.385	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	.	.	-28	-28	31	31	NM_001011546		19			50	0.28						19	50	0.28
BAP1	8314	broad.mit.edu	37	3	52441415	52441535	+	Splice_Site	DEL	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	-	rs374928824|rs374410140|rs201707820|rs372943588|rs370668123|rs369277958	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr3:52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	ENST00000460680.1	-	6	847_908	c.376_437delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG	c.(376-438)acccatagtcctacctgaggagaaattattctgatacggccttattttcttccccgtagagca>a	p.THSPT*GEIILIRPYFLPRRA126fs	BAP1_ENST00000296288.5_Splice_Site_p.THSPT*GEIILIRPYFLPRRA126fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)|p.H144N(1)|p.H144fs*43(1)|p.E136*(1)|p.P135Q(1)|p.G128R(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAA	0.536			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	7	Substitution - Missense(3)|Unknown(2)|Deletion - Frameshift(1)|Substitution - Nonsense(1)	eye(3)|lung(2)|kidney(2)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(376-438)acccatagtcctacctgaggagaaattattctgatacggccttattttcttccccgtagagca>a	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.376-1ACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG>-	3:g.52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT			BAP1_ENST00000296288.5_Splice_Site_p.THSPT*GEIILIRPYFLPRRA126fs	p.THSPT*GEIILIRPYFLPRRA126fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	6	847_908	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.376_437delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG	CCDS2853.1																																																																																									0.536	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	3.247000e+01	1.676000e+01	-40	-40	69	69		Frame_Shift_Del	6			25	2.000000e-01						6	25	0.2
